Abstract
Apert syndrome, also known as acrocephalosyndactyly, is one of the causes of craniofacial syndrome or deformity. It is a rare congenital disorder characterized by premature fusion of cranial sutures (craniosynostosis), malformation of skull, hands, face and feet. This congenital deformity has incidence of 1/50,000 to 1/80,000 live births and is an autosomal dominant in inheritance. Apert syndrome, fibroblast growth factor receptor 2 (FGFR2) and the missense substitution mutations occur at adjacent amino acids (i.e. Ser252Trp, Ser 252Phe, Pro253Arg) between the second and third extra cellular immunoglobulin domain of FGFR2, which maps to chromosome bands 10q26. Increased paternal age has been implicated in the development of Apert syndrome. The syndrome has to be thoroughly evaluated as early definitive diagnosis is important in order to distinguish Apert syndrome from other forms of craniosynostosis like Carpenter syndrome, Crouzon disease, Pfeiffer and Saethre-Chotzen syndrome. It is generally accepted that management of Apert syndrome is multidisciplinary in approach, which should compose of neonatologists, neurosurgeons, craniofacial surgeons, plastic surgeons, otolaryngologists, orthodontists, orthopaedic surgeons, ophthalmologists, radiologists, geneticists, clinical psychologists and speech and language pathologists for the effective management of this condition. Early diagnosis and treatment is important because Apert syndrome when treated early has good prognosis in adult life.
Highlights
Apert syndrome, known as Acrocephalosyndactyly, is a rarecongenital malformation characterized by premature fusion of the cranial sutures, malformations of the skull, hands, face and feet [1]-[3].How to cite this paper: Pius, S., Ibrahim, H.A., Bello, M., Mbaya, K. and Ambe, J.P. (2016) Apert’s Syndrome: A Case Report and Review of Literature
This case study is reported here in order to remind clinician especially the neonatologists who are first confronted with such congenital abnormality that, this inherited condition, even though is rare as it thought to be, whenever it is observed at birth, it should be thoroughly evaluated so as to differentiate it from other causes of craniosynostosis mentioned above because Apert syndrome when identified early and treated its, outcome is good in adulthood life
Apert syndrome is an autosomal dominant condition in which increased paternal age has been implicated in its development
Summary
Known as Acrocephalosyndactyly, is a rarecongenital malformation characterized by premature fusion of the cranial sutures (craniosynostosis), malformations of the skull, hands, face and feet [1]-[3]. The incidence of infants born with Apert syndrome ranges between 1 in 50,000 to 80,000 live births in the over world [7] This rare clinical abnormality has to be differentiated from other craniofacial syndromes such as Carpenter syndrome (cloverleaf skull deformity), Crouzon disease (craniofacial dysostosis), Pfeiffer syndrome and Seathre-Chotzen syndrome [1]. This case study is reported here in order to remind clinician especially the neonatologists who are first confronted with such congenital abnormality that, this inherited condition, even though is rare as it thought to be, whenever it is observed at birth, it should be thoroughly evaluated so as to differentiate it from other causes of craniosynostosis mentioned above because Apert syndrome when identified early and treated its, outcome is good in adulthood life
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